Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0095 a0001c0001t0151g0095	1	53	0.0189	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(407): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0150	1	118	0.0085	414	c.-75 others(433): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACATACAGTATACATACATAC AGTATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(407): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0213 a0001c0001t0013g0213	1	118	0.0085	414	c.-75 others(433): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACA TACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535916	C C	CGGGGCAA others(407): Show CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCC TGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGC ACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCA CTCAGGATCCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02630.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0312 a0001c0001t0001g0207 a0001c0001t0001g0312	2	304	0.0066	414	c.140 others(431): Show c.140+8107_140+8108insAGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(407): Show TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	72	0.0139	414	c.360 others(433): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATAATCATATTATGACATATATCATAATATATAATCATATTAT GACATATATCATAATATATATAATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18946.hp1 NA18947.hp1 others(2): Show HG00609.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0116 a0001c0001t0004 a0001c0001t0116	a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 others(2): Show a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0260 a0001c0001t0116g0254	5	234	0.0214	414	c.116 others(433): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATAATCATATTATGACATATATCA TAATATATAATCATATTATGACATATATCATAATATATATAATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG01261.hp2 others(6): Show HG00673.hp1 HG01123.hp1 HG01261.hp2 HG01978.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp1 NA18942.hp2 NA19011.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0096 a0001c0001t0115 a0004c0005t0004	a0001c0001t0003g0189 a0001c0001t0004g0250 a0001c0001t0010g0256 others(6): Show a0001c0001t0003g0189 a0001c0001t0004g0250 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0010g0259 a0001c0001t0096g0131 a0001c0001t0115g0243 a0004c0005t0004g0246 a0004c0005t0004g0247	9	66	0.1364	414	c.116 others(433): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(407): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATGTCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	58	0.0172	414	c.116 others(433): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATGTCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(407): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTATGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0116 a0116	a0116c0115 a0116c0115	a0116c0115t0001 a0116c0115t0001	a0116c0115t0001g0202 a0116c0115t0001g0202	1	148	0.0068	414	c.292 others(429): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTATGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(407): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG00733.hp1 others(20): Show HG00280.hp2 HG00673.hp1 HG00733.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG02145.hp2 HG02148.hp2 HG03225.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp2 NA18906.hp1 NA18967.hp2 NA18970.hp2 NA18983.hp2 NA18985.hp1 NA19009.hp1 NA19066.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0019 a0032 a0038 a0091 a0097 a0106 a0113	a0001c0001 a0002c0006 a0003c0002 others(14): Show a0001c0001 a0002c0006 a0003c0002 a0005c0008 a0006c0076 a0007c0004 a0007c0047 a0008c0029 a0009c0086 a0011c0005 a0019c0015 a0032c0019 a0038c0063 a0091c0064 a0097c0087 a0106c0174 a0113c0070	a0001c0001t0001 a0002c0006t0001 a0003c0002t0001 others(14): Show a0001c0001t0001 a0002c0006t0001 a0003c0002t0001 a0005c0008t0001 a0006c0076t0001 a0007c0004t0002 a0007c0047t0002 a0008c0029t0001 a0009c0086t0001 a0011c0005t0001 a0019c0015t0002 a0032c0019t0001 a0038c0063t0001 a0091c0064t0001 a0097c0087t0001 a0106c0174t0001 a0113c0070t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0207 others(20): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0207 a0001c0001t0001g0210 a0002c0006t0001g0264 a0002c0006t0001g0265 a0003c0002t0001g0209 a0005c0008t0001g0208 a0006c0076t0001g0213 a0007c0004t0002g0212 a0007c0047t0002g0205 a0008c0029t0001g0211 a0009c0086t0001g0216 a0011c0005t0001g0203 a0011c0005t0001g0204 a0019c0015t0002g0248 a0019c0015t0002g0249 a0032c0019t0001g0206 a0038c0063t0001g0009 a0091c0064t0001g0214 a0097c0087t0001g0215 a0106c0174t0001g0246 a0113c0070t0001g0247	23	170	0.1353	414	c.292 others(429): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTCCT others(407): Show TCCTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	62	0.0161	414	c.773 others(429): Show c.773+674_773+675insTTCCTTTCCTTCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTT CCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCT TCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(407): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01975.hp1 HG03704.hp2 others(2): Show HG00738.hp1 HG01975.hp1 HG03704.hp2 NA18951.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0001g0052 others(2): Show a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0140	5	334	0.0150	414	c.37 others(425): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACC CTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PHACTR3_chr20_59599540_59852711	59674362	T T	TCCCCTTC others(407): Show TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCC TTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC CCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCT TCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCC CCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTT CCCCTTCTCCTGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCT TCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCC TCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTT CCCCTTCTCCTGTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	222	0.0045	414	c.119 others(433): Show c.119-68646_119-68645insCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCC TGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTC CTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCCCCTTCTCCT GTTCCTTCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCC TGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTC CTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCT GTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCC TGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(407): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG AGGGGAGGGGGAAGAGGGGAGGGAGGAGATGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	299	0.0033	414	c.53 others(425): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGAGGGGAGGGGGAAGAGGGGAGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGG AGAGGAGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	G G	GGAACATC others(407): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACAT GACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGA AATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAG GAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACA TGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTAT GATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAAC ATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGAC TGGAAAGGAGTCAGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp1 NA18945.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0062 a0001c0001t0014g0160 a0001c0001t0014g0062 a0001c0001t0014g0160	2	244	0.0082	414	c.108 others(433): Show c.1082+2291_1082+2292insTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGA CCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAA TGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGA GTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATG ACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA TACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACAT CTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTG GAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(407): Show GGTAGTTAGGGTCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGCTGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCGG TAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	225	0.0044	414	c.335 others(433): Show c.335-12294_335-12293insCTGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGG CTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123646	G G	GGTAGTTA others(407): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	228	0.0044	414	c.335 others(433): Show c.335-11607_335-11606insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392490	A A	ATGATGGT others(407): Show ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	364	0.0027	414	c.-47 others(425): Show c.-4737_-4736insTGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGATGGTGGTGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4709		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(407): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGAT GGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	316	0.0032	414	c.-46 others(425): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGG TGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTG GTGATGGGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCAAACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA TGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	23	0.0435	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTTTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA CGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG01167.hp2 others(33): Show HG00673.hp2 HG01070.hp2 HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01975.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp2 NA18966.hp1 NA18979.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0022 a0029 a0034	a0001c0001 a0001c0011 a0002c0002 others(20): Show a0001c0001 a0001c0011 a0002c0002 a0002c0037 a0003c0003 a0003c0005 a0004c0041 a0005c0015 a0005c0018 a0005c0028 a0009c0008 a0011c0013 a0012c0014 a0013c0010 a0014c0016 a0015c0009 a0016c0025 a0016c0044 a0017c0017 a0019c0040 a0022c0048 a0029c0047 a0034c0029	a0001c0001t0001 a0001c0011t0002 a0002c0002t0001 others(21): Show a0001c0001t0001 a0001c0011t0002 a0002c0002t0001 a0002c0037t0001 a0003c0003t0001 a0003c0005t0001 a0003c0005t0003 a0004c0041t0001 a0005c0015t0001 a0005c0018t0001 a0005c0028t0001 a0009c0008t0001 a0011c0013t0001 a0012c0014t0001 a0013c0010t0002 a0014c0016t0001 a0015c0009t0001 a0016c0025t0001 a0016c0044t0001 a0017c0017t0001 a0019c0040t0001 a0022c0048t0001 a0029c0047t0001 a0034c0029t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0077 others(33): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0011t0002g0099 a0002c0002t0001g0028 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0037t0001g0087 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0005t0001g0041 a0003c0005t0003g0003 a0004c0041t0001g0057 a0005c0015t0001g0030 a0005c0018t0001g0085 a0005c0028t0001g0083 a0009c0008t0001g0059 a0009c0008t0001g0064 a0011c0013t0001g0058 a0011c0013t0001g0066 a0012c0014t0001g0056 a0013c0010t0002g0108 a0014c0016t0001g0062 a0014c0016t0001g0063 a0015c0009t0001g0088 a0016c0025t0001g0027 a0016c0044t0001g0061 a0017c0017t0001g0074 a0019c0040t0001g0060 a0022c0048t0001g0069 a0029c0047t0001g0075 a0034c0029t0001g0055	36	58	0.6207	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCGTGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(407): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACACA CAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACACA GTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTCCA TGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACACA CATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACA CACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00741.hp1 others(30): Show HG00438.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01517.hp1 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG06807.hp1 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18956.hp1 NA18959.hp2 NA18966.hp2 NA18984.hp1 NA19003.hp1 NA19003.hp2 NA19056.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0008 a0013 a0017 a0020 a0021 a0023 a0031 a0032	a0001c0001 a0001c0032 a0002c0002 others(11): Show a0001c0001 a0001c0032 a0002c0002 a0003c0003 a0003c0033 a0006c0007 a0008c0030 a0013c0010 a0017c0017 a0020c0038 a0021c0039 a0023c0020 a0031c0031 a0032c0034	a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0033t0001 a0006c0007t0002 a0008c0030t0002 a0013c0010t0002 a0017c0017t0001 a0020c0038t0002 a0021c0039t0002 a0023c0020t0001 a0031c0031t0002 a0032c0034t0002	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 others(30): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0032t0002g0106 a0002c0002t0002g0103 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0003c0003t0001g0082 a0003c0003t0002g0107 a0003c0033t0001g0036 a0006c0007t0002g0104 a0008c0030t0002g0105 a0013c0010t0002g0094 a0017c0017t0001g0054 a0020c0038t0002g0119 a0021c0039t0002g0120 a0023c0020t0001g0084 a0031c0031t0002g0121 a0032c0034t0002g0122	33	55	0.6000	414	c.165 others(433): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGT GTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGT ATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(407): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTA GTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAG TGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT GAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGT GAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTG AGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAG CTCCCTTAGTCAGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01169.hp2 others(10): Show HG00280.hp1 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 others(6): Show a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0128 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0147 a0001c0008t0003g0050	13	336	0.0387	414	c.237 others(431): Show c.237-1529_237-1528insTAGTGAGCGCCCTTGCCAGTTAGTTAAG TGAGCGCCCTTAGCCAGTTAGATAGTGAGCGCCCTTAGCCAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGC GCCCTTGCCAGTTAGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCT TGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTA GCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAG CCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(407): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACC AGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCC CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA TCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCC ACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	119	0.0084	414	c.397 others(427): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGA TGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGG GCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATG GTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	30	0.0333	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGG AGGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	30	0.0333	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGA GGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGGGAGGGGGGGAGG AGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	30	0.0333	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGGAGGGGGGAGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	30	0.0333	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGGAGGGGGGAGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGGGAGG AGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGGAGGAGGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	30	0.0333	414	c.36 others(425): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGAGGAGGGGGAGGGGG GAGGAGGGGGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(407): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGCGGAGGGGAGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGG AGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAG GGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGG GGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0007 a0004c0019t0001g0007	1	16	0.0625	414	c.188 others(433): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPH3AL_chr17_207389_357807	303805	C C	CTCAGGAA others(407): Show CTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAAT TATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCT GTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAG GTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTG AGCAGTGACCGTGTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	125	0.0160	414	c.351 others(433): Show c.351+15614_351+15615insAACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303860	A A	AGCAGTGA others(407): Show AGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGT GTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	125	0.0080	414	c.351 others(433): Show c.351+15559_351+15560insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC CCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303938	C C	CGTGTCTC others(407): Show CGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTA ATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGG AGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGA AAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAG CAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGA GGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGA GGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGT CTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAAT TATTGAGCAGTGACT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	132	0.0076	414	c.351 others(433): Show c.351+15481_351+15482insAGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303998	A A	AGCAGTGA others(407): Show AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	124	0.0081	414	c.351 others(433): Show c.351+15421_351+15422insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743845	T T	TTACGAGC others(407): Show TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0016 a0001c0091t0016	a0001c0091t0016g0166 a0001c0091t0016g0166	1	183	0.0055	414	c.655 others(433): Show c.655-10162_655-10161insGAGCACAGCCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743881	C C	CTACTAGC others(407): Show CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTAC TAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0063 a0001c0002t0010g0063	1	184	0.0054	414	c.655 others(433): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743885	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0098 a0001c0032t0098	a0001c0032t0098g0052 a0001c0032t0098g0052	1	193	0.0052	414	c.655 others(433): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743947	C C	CCCTGGTT others(407): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGC AGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTAC TAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0060 a0001c0074t0032g0060	1	180	0.0056	414	c.655 others(433): Show c.655-10058_655-10057insTTACTAGCAGAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744073	T T	TCCTGGCT others(407): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	168	0.0060	414	c.655 others(431): Show c.655-9932_655-9931insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744101	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCT GGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0028 a0001c0083t0028	a0001c0083t0028g0158 a0001c0083t0028g0158	1	171	0.0058	414	c.655 others(431): Show c.655-9896_655-9895insCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(407): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0037 a0001c0019t0008g0037	1	137	0.0073	414	c.655 others(431): Show c.655-9670_655-9669insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744349	C C	CTACTAGT others(407): Show CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20752.hp2 HG01081.hp1 NA20752.hp2	a0001 a0001	a0001c0037 a0001c0095 a0001c0037 a0001c0095	a0001c0037t0053 a0001c0095t0003 a0001c0037t0053 a0001c0095t0003	a0001c0037t0053g0139 a0001c0095t0003g0138 a0001c0037t0053g0139 a0001c0095t0003g0138	2	152	0.0132	414	c.655 others(431): Show c.655-9655_655-9654insTACAGCCCTGGCTACTAGCACTGTCCTG GTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGC CCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCA CTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACT AGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGT TACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCC TGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACA GCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAG CACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	152	0.0066	414	c.655 others(431): Show c.655-9320_655-9319insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCAGAG others(407): Show TAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGC ACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02922.hp2 HG01168.hp1 HG01169.hp1 HG02922.hp2	a0001 a0001	a0001c0012 a0001c0053 a0001c0012 a0001c0053	a0001c0012t0003 a0001c0053t0006 a0001c0012t0003 a0001c0053t0006	a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0006g0122 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0006g0122	3	154	0.0195	414	c.655 others(431): Show c.655-9329_655-9328insGAGCCCTGGCTACTAGCAGAGCCCTGGT TACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCC TGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACT ATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTG CTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGT CCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTA CAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744883	C C	CCCTGGCT others(407): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0062 a0001c0035t0010g0062	1	150	0.0067	414	c.655 others(431): Show c.655-9104_655-9103insTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0053 a0001c0037t0053	a0001c0037t0053g0139 a0001c0037t0053g0139	1	162	0.0062	414	c.393 others(431): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0062 a0001c0011t0062	a0001c0011t0062g0114 a0001c0011t0062g0114	1	162	0.0062	414	c.393 others(431): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0101 a0001c0004t0014g0101	1	150	0.0067	414	c.393 others(431): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	150	0.0067	414	c.393 others(431): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(407): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCC CTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCC CCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	5	0.2000	414	c.77 others(425): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTC CCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCC CCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar

Search by Variant

Search

Search Results