JoGo: Joint Open Genome and Omics Platform

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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
MFSD3_chr8_144504070_144516213	144509832	TTTCTGCT others(26): Show TTTCTGCTCCTGGCTGCCACCTACTGGCTGGCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0004 a0011c0013t0001g0004	1	400	0.0025	-33	c.500 others(40): Show c.500_532delTTCTGCTCCTGGCTGCCACCTACTGGCTGGCCG	p.Phe others(19): Show p.Phe167_Ala178delinsSer	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding	1/5	764/1552	500/1239	167/412		chr8	TogoVar
MICALL2_chr7_1429359_1464470	1445228	TTGTTTGC others(8): Show TTGTTTGCCTCCTGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18948.hp2	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0141 a0038c0037t0001g0141	1	280	0.0036	-15	c.827 others(22): Show c.827_841delCCCAGGAGGCAAACA	p.Ala others(19): Show p.Ala276_Lys281delinsGlu	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/17	985/3096	827/2715	276/904		chr7	TogoVar
MIOX_chr22_50481859_50495648	50489045	TGTCGTCG others(17): Show TGTCGTCGGCGACACCTTCCCCGTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0006 a0004c0008t0016g0006	1	436	0.0023	-24	c.416 others(31): Show c.416_439delTCGTCGGCGACACCTTCCCCGTCG	p.Val others(13): Show p.Val139_Val146del	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	6/10	455/1689	416/858	139/285	INFO_REALIGN_3_PRIME	chr22	TogoVar
MLXIP_chr12_122073756_122152344	122138895	AATACGTG others(8): Show AATACGTGAAAACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19060.hp2 NA19060.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0023 a0012c0022t0023	a0012c0022t0023g0265 a0012c0022t0023g0265	1	354	0.0028	-15	c.246 others(24): Show c.2466_2480delATACGTGAAAACCCG	p.Tyr others(13): Show p.Tyr823_Arg827del	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	15/17	2564/8390	2466/2760	822/919		chr12	TogoVar
MMP24OS_chr20_35271352_35283122	35277855	AGGCTGGG others(5): Show AGGCTGGGGCTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02809.hp2 HG03209.hp1 HG02630.hp2 HG02809.hp2 HG03209.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0011 a0005c0006t0005 a0005c0006t0011	a0005c0006t0005g0032 a0005c0006t0011g0015 a0005c0006t0005g0032 a0005c0006t0011g0015	3	374	0.0080	-12	c.63_ others(17): Show c.63_74delCCAGCCCCAGCC	p.Gln others(11): Show p.Gln22_Pro25del	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	191/1695	63/216	21/71		chr20	TogoVar
MN1_chr22_27743277_27806756	27798906	CTGCTGT CTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG00741.hp2 HG01167.hp1 others(9): Show HG00621.hp2 HG00741.hp2 HG01167.hp1 HG01192.hp1 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG03098.hp1 HG03471.hp2 NA18942.hp2 NA19009.hp2 NA19065.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0004t0016	a0003c0004t0001g0239 a0003c0004t0001g0241 a0003c0004t0001g0245 others(8): Show a0003c0004t0001g0239 a0003c0004t0001g0241 a0003c0004t0001g0245 a0003c0004t0001g0247 a0003c0004t0002g0240 a0003c0004t0002g0242 a0003c0004t0002g0243 a0003c0004t0002g0246 a0003c0004t0005g0005 a0003c0004t0005g0244 a0003c0004t0016g0248	12	394	0.0305	-6	c.163 others(15): Show c.1632_1637delACAGCA	p.Gln others(13): Show p.Gln545_Gln546del	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding	1/2	2850/7814	1632/3963	544/1320		chr22	TogoVar
MN1_chr22_27743277_27806756	27798945	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp1 HG03710.hp2 NA18522.hp2 HG03225.hp1 HG03710.hp2 NA18522.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0009 a0005c0011t0019 a0005c0011t0004 a0005c0011t0009 a0005c0011t0019	a0005c0011t0004g0279 a0005c0011t0009g0014 a0005c0011t0019g0015 a0005c0011t0004g0279 a0005c0011t0009g0014 a0005c0011t0019g0015	3	394	0.0076	-3	c.159 others(12): Show c.1596_1598delGCA	p.Gln others(6): Show p.Gln533del	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding	1/2	2811/7814	1596/3963	532/1320		chr22	TogoVar
MOG_chr6_29652092_29677365	29657255	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00642.hp2 HG00735.hp2 others(26): Show HG00140.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18952.hp2 NA18965.hp2 NA19057.hp2 NA20129.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0009 a0003c0003t0015 others(3): Show a0003c0003t0002 a0003c0003t0009 a0003c0003t0015 a0003c0003t0016 a0003c0003t0018 a0003c0003t0024	a0003c0003t0002g0005 a0003c0003t0002g0042 a0003c0003t0009g0019 others(19): Show a0003c0003t0002g0005 a0003c0003t0002g0042 a0003c0003t0009g0019 a0003c0003t0009g0031 a0003c0003t0009g0032 a0003c0003t0009g0051 a0003c0003t0009g0052 a0003c0003t0009g0182 a0003c0003t0009g0187 a0003c0003t0015g0019 a0003c0003t0015g0031 a0003c0003t0015g0032 a0003c0003t0015g0185 a0003c0003t0016g0019 a0003c0003t0016g0051 a0003c0003t0016g0183 a0003c0003t0016g0184 a0003c0003t0016g0186 a0003c0003t0018g0050 a0003c0003t0018g0180 a0003c0003t0018g0181 a0003c0003t0024g0179	29	439	0.0661	-3	c.65_ others(8): Show c.65_67delTCC	p.Leu others(5): Show p.Leu22del	MOG	ENSG00000204655.12	transcript	ENST00000376917.8	protein_coding	1/8	183/2042	65/744	22/247	INFO_REALIGN_3_PRIME	chr6	TogoVar
MPRIP_chr17_17037457_17197643	17136247	CCAG CCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(225): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(18): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0001c0001 a0001c0025 a0001c0027 others(31): Show a0001c0001 a0001c0025 a0001c0027 a0001c0031 a0001c0032 a0002c0002 a0002c0006 a0002c0022 a0004c0005 a0004c0007 a0004c0014 a0004c0015 a0004c0033 a0004c0035 a0006c0010 a0006c0016 a0006c0038 a0007c0008 a0008c0011 a0009c0013 a0013c0023 a0014c0021 a0015c0040 a0016c0020 a0017c0034 a0018c0039 a0019c0043 a0020c0036 a0021c0037 a0022c0024 a0023c0029 a0024c0028 a0025c0026 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(101): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069 a0001c0025t0009 a0001c0027t0001 a0001c0031t0002 a0001c0032t0001 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0016 a0002c0002t0024 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0049 a0002c0002t0077 a0002c0002t0080 a0002c0002t0086 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0098 a0002c0002t0099 a0002c0002t0111 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0006t0010 a0002c0006t0023 a0002c0006t0078 a0002c0006t0081 a0002c0006t0082 a0002c0006t0083 a0002c0006t0084 a0002c0006t0085 a0002c0006t0087 a0002c0022t0007 a0004c0005t0003 a0004c0005t0027 a0004c0005t0042 a0004c0005t0051 a0004c0007t0028 a0004c0007t0033 a0004c0007t0034 a0004c0007t0062 a0004c0007t0063 a0004c0007t0075 a0004c0007t0076 a0004c0014t0015 a0004c0015t0003 a0004c0033t0015 a0004c0035t0107 a0006c0010t0025 a0006c0010t0100 a0006c0010t0101 a0006c0016t0047 a0006c0016t0102 a0006c0038t0047 a0007c0008t0017 a0007c0008t0029 a0007c0008t0052 a0008c0011t0002 a0008c0011t0019 a0008c0011t0056 a0009c0013t0001 a0009c0013t0002 a0009c0013t0019 a0013c0023t0097 a0014c0021t0079 a0015c0040t0002 a0016c0020t0003 a0017c0034t0105 a0018c0039t0104 a0019c0043t0109 a0020c0036t0053 a0021c0037t0103 a0022c0024t0009 a0023c0029t0001 a0024c0028t0001 a0025c0026t0032 a0026c0030t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(225): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0009g0011 a0001c0001t0009g0040 a0001c0001t0009g0082 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0018g0033 a0001c0001t0018g0036 a0001c0001t0018g0078 a0001c0001t0019g0081 a0001c0001t0020g0107 a0001c0001t0020g0108 a0001c0001t0020g0109 a0001c0001t0021g0015 a0001c0001t0021g0017 a0001c0001t0021g0110 a0001c0001t0022g0018 a0001c0001t0022g0046 a0001c0001t0022g0088 a0001c0001t0030g0035 a0001c0001t0030g0077 a0001c0001t0031g0024 a0001c0001t0031g0031 a0001c0001t0054g0034 a0001c0001t0055g0071 a0001c0001t0057g0010 a0001c0001t0058g0023 a0001c0001t0059g0006 a0001c0001t0060g0014 a0001c0001t0061g0020 a0001c0001t0069g0030 a0001c0025t0009g0063 a0001c0027t0001g0087 a0001c0031t0002g0105 a0001c0032t0001g0064 a0002c0002t0007g0115 a0002c0002t0007g0116 a0002c0002t0007g0119 a0002c0002t0007g0124 a0002c0002t0007g0126 a0002c0002t0007g0130 a0002c0002t0007g0132 a0002c0002t0007g0140 a0002c0002t0008g0141 a0002c0002t0008g0142 a0002c0002t0008g0155 a0002c0002t0008g0157 a0002c0002t0008g0160 a0002c0002t0008g0170 a0002c0002t0008g0171 a0002c0002t0008g0176 a0002c0002t0012g0039 a0002c0002t0012g0070 a0002c0002t0012g0113 a0002c0002t0012g0127 a0002c0002t0012g0139 a0002c0002t0016g0154 a0002c0002t0016g0156 a0002c0002t0016g0158 a0002c0002t0016g0159 a0002c0002t0024g0134 a0002c0002t0024g0135 a0002c0002t0024g0136 a0002c0002t0043g0111 a0002c0002t0043g0122 a0002c0002t0044g0049 a0002c0002t0044g0120 a0002c0002t0045g0118 a0002c0002t0045g0128 a0002c0002t0046g0133 a0002c0002t0046g0137 a0002c0002t0049g0144 a0002c0002t0077g0131 a0002c0002t0080g0164 a0002c0002t0086g0143 a0002c0002t0088g0174 a0002c0002t0089g0173 a0002c0002t0090g0044 a0002c0002t0091g0312 a0002c0002t0092g0121 a0002c0002t0093g0114 a0002c0002t0094g0145 a0002c0002t0095g0129 a0002c0002t0096g0125 a0002c0002t0098g0138 a0002c0002t0099g0123 a0002c0002t0111g0268 a0002c0002t0112g0161 a0002c0002t0113g0163 a0002c0002t0114g0162 a0002c0006t0010g0001 a0002c0006t0010g0146 a0002c0006t0010g0150 a0002c0006t0010g0168 a0002c0006t0010g0169 a0002c0006t0010g0172 a0002c0006t0023g0001 a0002c0006t0023g0151 a0002c0006t0023g0165 a0002c0006t0078g0147 a0002c0006t0081g0153 a0002c0006t0082g0149 a0002c0006t0083g0148 a0002c0006t0084g0175 a0002c0006t0085g0167 a0002c0006t0087g0152 a0002c0022t0007g0112 a0004c0005t0003g0180 a0004c0005t0003g0181 a0004c0005t0003g0182 a0004c0005t0003g0183 a0004c0005t0003g0184 a0004c0005t0003g0185 a0004c0005t0003g0186 a0004c0005t0003g0187 a0004c0005t0003g0188 a0004c0005t0003g0189 a0004c0005t0003g0190 a0004c0005t0003g0191 a0004c0005t0003g0226 a0004c0005t0003g0227 a0004c0005t0003g0229 a0004c0005t0027g0264 a0004c0005t0027g0265 a0004c0005t0042g0262 a0004c0005t0042g0263 a0004c0005t0051g0228 a0004c0007t0028g0217 a0004c0007t0028g0218 a0004c0007t0033g0211 a0004c0007t0033g0267 a0004c0007t0034g0213 a0004c0007t0034g0214 a0004c0007t0062g0216 a0004c0007t0063g0215 a0004c0007t0075g0210 a0004c0007t0076g0212 a0004c0014t0015g0205 a0004c0014t0015g0207 a0004c0014t0015g0208 a0004c0015t0003g0230 a0004c0015t0003g0231 a0004c0015t0003g0232 a0004c0033t0015g0206 a0004c0035t0107g0196 a0006c0010t0025g0201 a0006c0010t0025g0202 a0006c0010t0025g0204 a0006c0010t0100g0200 a0006c0010t0101g0179 a0006c0016t0047g0199 a0006c0016t0102g0209 a0006c0038t0047g0203 a0007c0008t0017g0219 a0007c0008t0017g0223 a0007c0008t0017g0224 a0007c0008t0029g0221 a0007c0008t0029g0222 a0007c0008t0052g0220 a0008c0011t0002g0009 a0008c0011t0002g0047 a0008c0011t0019g0074 a0008c0011t0056g0057 a0009c0013t0001g0045 a0009c0013t0002g0054 a0009c0013t0019g0053 a0013c0023t0097g0117 a0014c0021t0079g0166 a0015c0040t0002g0022 a0016c0020t0003g0178 a0017c0034t0105g0003 a0018c0039t0104g0294 a0019c0043t0109g0285 a0020c0036t0053g0266 a0021c0037t0103g0293 a0022c0024t0009g0106 a0023c0029t0001g0090 a0024c0028t0001g0066 a0025c0026t0032g0065 a0026c0030t0002g0043	228	314	0.7261	-3	c.566 others(10): Show c.566_568delGCA	p.Ser others(6): Show p.Ser189del	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	6/24	958/15419	566/7278	189/2425	INFO_REALIGN_3_PRIME	chr17	TogoVar
MPRIP_chr17_17037457_17197643	17136247	CCAGCAG CCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00438.hp1 HG02056.hp1 others(26): Show HG00423.hp1 HG00438.hp1 HG02056.hp1 HG02135.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG03490.hp2 HG03491.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA19004.hp2 NA19058.hp1 NA19064.hp1 NA19081.hp1 NA19090.hp1 NA20129.hp2	a0005 a0012 a0005 a0012	a0005c0004 a0005c0012 a0012c0044 a0005c0004 a0005c0012 a0012c0044	a0005c0004t0004 a0005c0004t0011 a0005c0004t0026 others(6): Show a0005c0004t0004 a0005c0004t0011 a0005c0004t0026 a0005c0004t0048 a0005c0004t0108 a0005c0004t0110 a0005c0012t0004 a0005c0012t0106 a0012c0044t0004	a0005c0004t0004g0269 a0005c0004t0004g0275 a0005c0004t0004g0277 others(26): Show a0005c0004t0004g0269 a0005c0004t0004g0275 a0005c0004t0004g0277 a0005c0004t0004g0278 a0005c0004t0004g0279 a0005c0004t0004g0281 a0005c0004t0004g0282 a0005c0004t0004g0283 a0005c0004t0004g0286 a0005c0004t0004g0289 a0005c0004t0004g0290 a0005c0004t0011g0197 a0005c0004t0011g0198 a0005c0004t0011g0272 a0005c0004t0011g0273 a0005c0004t0011g0274 a0005c0004t0011g0287 a0005c0004t0026g0276 a0005c0004t0026g0291 a0005c0004t0026g0292 a0005c0004t0048g0284 a0005c0004t0048g0288 a0005c0004t0108g0270 a0005c0004t0110g0280 a0005c0012t0004g0193 a0005c0012t0004g0194 a0005c0012t0004g0195 a0005c0012t0106g0192 a0012c0044t0004g0271	29	314	0.0924	-6	c.563 others(13): Show c.563_568delGCAGCA	p.Ser others(13): Show p.Ser188_Ser189del	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	6/24	955/15419	563/7278	188/2425	INFO_REALIGN_3_PRIME	chr17	TogoVar
MPRIP_chr17_17037457_17197643	17136247	CCAGCAGC others(5): Show CCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0002 a0011c0041t0002	a0011c0041t0002g0029 a0011c0041t0002g0029	1	314	0.0032	-12	c.557 others(19): Show c.557_568delGCAGCAGCAGCA	p.Ser others(13): Show p.Ser186_Ser189del	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	6/24	949/15419	557/7278	186/2425	INFO_REALIGN_3_PRIME	chr17	TogoVar
MPRIP_chr17_17037457_17197643	17136247	CCAGCAGC others(8): Show CCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0042 a0010c0042	a0010c0042t0032 a0010c0042t0032	a0010c0042t0032g0007 a0010c0042t0032g0007	1	314	0.0032	-15	c.554 others(22): Show c.554_568delGCAGCAGCAGCAGCA	p.Ser others(13): Show p.Ser185_Ser189del	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	6/24	946/15419	554/7278	185/2425	INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL18_chr6_159785467_159803429	159790613	GGTT GGTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(261): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 others(45): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0004g0016 a0001c0001t0005g0005	264	408	0.6471	-3	c.30_ others(8): Show c.30_32delGTT	p.Leu others(5): Show p.Leu10del	MRPL18	ENSG00000112110.10	transcript	ENST00000367034.5	protein_coding	1/4	151/970	30/543	10/180	INFO_REALIGN_3_PRIME	chr6	TogoVar
MSH3_chr5_80649652_80881815	80654880	TGCAGCGG others(11): Show TGCAGCGGCTGCAGCGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18952.hp2 NA18974.hp2 NA18999.hp2 others(2): Show NA18952.hp2 NA18974.hp2 NA18999.hp2 NA19060.hp1 NA19084.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0016 a0009c0009t0002 a0009c0009t0016	a0009c0009t0002g0041 a0009c0009t0002g0066 a0009c0009t0002g0076 others(2): Show a0009c0009t0002g0041 a0009c0009t0002g0066 a0009c0009t0002g0076 a0009c0009t0002g0081 a0009c0009t0016g0040	5	362	0.0138	-18	c.162 others(25): Show c.162_179delTGCAGCGGCCGCAGCGGC	p.Ala others(11): Show p.Ala55_Ala60del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	238/4443	162/3414	54/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654887	GCTGCAGC others(20): Show GCTGCAGCGGCCGCAGCGGCCGCAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(55): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00738.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp2 HG02280.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18957.hp1 NA18995.hp2 NA19043.hp1 NA19079.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0003 a0005c0006 a0008c0010 others(1): Show a0002c0003 a0005c0006 a0008c0010 a0008c0024	a0002c0003t0003 a0002c0003t0012 a0002c0003t0014 others(5): Show a0002c0003t0003 a0002c0003t0012 a0002c0003t0014 a0002c0003t0030 a0002c0003t0031 a0005c0006t0003 a0008c0010t0009 a0008c0024t0009	a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0006 others(55): Show a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0184 a0002c0003t0003g0185 a0002c0003t0003g0186 a0002c0003t0003g0187 a0002c0003t0003g0188 a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0191 a0002c0003t0003g0192 a0002c0003t0003g0193 a0002c0003t0003g0196 a0002c0003t0003g0197 a0002c0003t0003g0198 a0002c0003t0003g0199 a0002c0003t0003g0200 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0204 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0012g0194 a0002c0003t0012g0203 a0002c0003t0012g0207 a0002c0003t0012g0356 a0002c0003t0014g0005 a0002c0003t0014g0206 a0002c0003t0014g0220 a0002c0003t0030g0195 a0002c0003t0031g0210 a0005c0006t0003g0346 a0005c0006t0003g0347 a0005c0006t0003g0348 a0005c0006t0003g0349 a0005c0006t0003g0350 a0005c0006t0003g0351 a0005c0006t0003g0352 a0005c0006t0003g0354 a0005c0006t0003g0355 a0005c0006t0003g0357 a0005c0006t0003g0358 a0005c0006t0003g0359 a0005c0006t0003g0360 a0008c0010t0009g0211 a0008c0010t0009g0212 a0008c0010t0009g0216 a0008c0010t0009g0221 a0008c0010t0009g0353 a0008c0024t0009g0213	58	362	0.1602	-27	c.162 others(34): Show c.162_188delTGCAGCGGCCGCAGCGGCCGCAGCGCC	p.Ala others(11): Show p.Ala55_Pro63del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	238/4443	162/3414	54/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654908	GCAGCGCC others(2): Show GCAGCGCCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp1 HG02647.hp2 NA18522.hp2 HG02145.hp1 HG02647.hp2 NA18522.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0011 a0010c0014t0011	a0010c0014t0011g0300 a0010c0014t0011g0301 a0010c0014t0011g0302 a0010c0014t0011g0300 a0010c0014t0011g0301 a0010c0014t0011g0302	3	362	0.0083	-9	c.195 others(16): Show c.195_203delGCCCCCAGC	p.Pro others(11): Show p.Pro66_Ala68del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	271/4443	195/3414	65/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MTERF4_chr2_241090571_241107287	241096043	CTCG CTCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02486.hp2 HG02559.hp1 others(6): Show HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0011 a0004c0004 a0004c0011	a0004c0004t0001 a0004c0011t0001 a0004c0004t0001 a0004c0011t0001	a0004c0004t0001g0008 a0004c0004t0001g0034 a0004c0004t0001g0035 others(1): Show a0004c0004t0001g0008 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0011t0001g0036	9	398	0.0226	-3	c.109 others(12): Show c.1098_1100delCGA	p.Asp others(6): Show p.Asp366del	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding	4/4	1114/1587	1098/1146	366/381		chr2	TogoVar
MTERF4_chr2_241090571_241107287	241096100	CTCA CTCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01496.hp1 HG02109.hp1 HG02723.hp1 others(2): Show HG01496.hp1 HG02109.hp1 HG02723.hp1 HG03139.hp1 NA20300.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0010 a0007c0006t0003g0010	5	398	0.0126	-3	c.104 others(12): Show c.1041_1043delTGA	p.Asp others(6): Show p.Asp347del	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding	4/4	1057/1587	1041/1146	347/381		chr2	TogoVar
MTERF4_chr2_241090571_241107287	241096109	GTCATCC GTCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG03453.hp2 HG03471.hp1 others(2): Show HG02451.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0014 a0006c0007t0002g0021 a0006c0007t0002g0014 a0006c0007t0002g0021	5	398	0.0126	-6	c.102 others(15): Show c.1029_1034delGGATGA	p.Glu others(13): Show p.Glu343_Asp344del	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding	4/4	1048/1587	1029/1146	343/381		chr2	TogoVar
MTMR1_chrX_150688396_150770108	150693540	CCGGCGGC others(2): Show CCGGCGGCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0011 a0006c0010t0011	a0006c0010t0011g0187 a0006c0010t0011g0187	1	270	0.0037	-9	c.23_ others(14): Show c.23_31delCGGCGGCGG	p.Ala others(10): Show p.Ala8_Ala10del	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	1/16	158/4536	23/2022	8/673	INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC12_chr7_100964565_101023936	100996382	GACCAGGC others(1415): Show GACCAGGCTCAACGCACACAACAGCATTCCCTGACAGCACCACCACGCCA GGCCTCAGTCGGCATTCTACAACTTCCCACAGCAGCCCAGGCTCAACGGA TACAACACTGTTACCTGCCAGCACCACCACCTCAGGCCCCAGTCAGGAAT CAACAACTTCCCACAGCAGCCCAGGTTCAACTGACACAGCACTGTCCCCT GGCAGTACCACAGCCTTATCCTTTGGTCAAGAATCTACAACCTTCCACAG CAGCCCAGGCTCCACTCACACAACGCTCTTCCCTGACAGCACCACAAGCT CAGGCATCGTTGAAGCATCTACACGCGTCCACAGCAGCACTGGCTCACCA CGCACAACACTGTCCCCTGCCAGCTCCACAAGCCCTGGACTTCAGGGAGA ATCTACCGCCTTCCAGACCCACCCAGCCTCAACTCACACGACGCCTTCAC CTCCTAGCACCGCAACAGCCCCTGTTGAAGAATCTACAACCTACCACCGC AGCCCAGGCTCGACTCCAACAACACACTTCCCTGCCAGCTCCACAACTTC GGGCCACAGTGAGAAATCAACAATATTCCACAGCAGCCCAGATGCAAGTG GAACAACACCCTCATCTGCCCACTCCACAACCTCAGGTCGTGGAGAATCT ACAACCTCACGCATCAGTCCAGGCTCAACTGAAATAACAACGTTACCTGG CAGTACCACAACACCAGGCCTCAGTGAGGCATCTACCACCTTCTACAGCA GCCCCAGATCACCAACCACAACACTCTCACCTGCCAGTATGACAAGCCTA GGCGTCGGTGAAGAATCCACCACCTCCCGTAGCCAACCAGGTTCTACTCA CTCAACAGTGTCACCTGCCAGCACCACCACGCCAGGCCTCAGTGAGGAAT CTACCACCGTCTACAGCAGCAGCCCAGGCTCAACTGAAACCACAGTGTTC CCTCGCACCCCCACAACCTCAGTTCGTGGTGAAGAGCCTACAACCTTCCA CAGCCGGCCAGCCTCAACTCACACAACACTGTTCACTGAGGACAGCACCA CCTCGGGCCTCACTGAAGAATCTACAGCCTTCCCCGGCAGCCCAGCCTCC ACCCAAACAGGGTTACCTGCCACACTCACAACCGCAGACCTCGGTGAGGA ATCAACTACCTTTCCCAGCAGCTCAGGCTCAACTGGAACAACACTCTCAC CTGCCCGCTCCACCACCTCTGGCCTCGTTGGAGAATCCACACCCTCACGC CTCAGTCCAAGCTCAACCGAAACAACAACTTTACCCGGCAGTCCCACAAC ACCAAGCCTCAGTGAGAAATCAACCACCTTCTACACTAGCCCCAGATCAC CAGATGCAACACTCTCACCTGCAACCACAACAAGCTCAGGCGTCAGTGAA GAATCCAGCACATCCCACAGTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19066.hp1 NA19066.hp1	a0206 a0206	a0206c0077 a0206c0077	a0206c0077t0001 a0206c0077t0001	a0206c0077t0001g0123 a0206c0077t0001g0123	1	342	0.0029	-1422	c.609 others(9): Show c.6093_7514del	p.Leu others(15): Show p.Leu2032_Thr2505del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	6151/16366	6093/16008	2031/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100996789	GCCTTCCA others(1415): Show GCCTTCCAGACCCACCCAGCCTCAACTCACACGACGCCTTCACCTCCTAG CACCGCAACAGCCCCTGTTGAAGAATCTACAACCTACCACCGCAGCCCAG GCTCGACTCCAACAACACACTTCCCTGCCAGCTCCACAACTTCGGGCCAC AGTGAGAAATCAACAATATTCCACAGCAGCCCAGATGCAAGTGGAACAAC ACCCTCATCTGCCCACTCCACAACCTCAGGTCGTGGAGAATCTACAACCT CACGCATCAGTCCAGGCTCAACTGAAATAACAACGTTACCTGGCAGTACC ACAACACCAGGCCTCAGTGAGGCATCTACCACCTTCTACAGCAGCCCCAG ATCACCAACCACAACACTCTCACCTGCCAGTATGACAAGCCTAGGCGTCG GTGAAGAATCCACCACCTCCCGTAGCCAACCAGGTTCTACTCACTCAACA GTGTCACCTGCCAGCACCACCACGCCAGGCCTCAGTGAGGAATCTACCAC CGTCTACAGCAGCAGCCCAGGCTCAACTGAAACCACAGTGTTCCCTCGCA CCCCCACAACCTCAGTTCGTGGTGAAGAGCCTACAACCTTCCACAGCCGG CCAGCCTCAACTCACACAACACTGTTCACTGAGGACAGCACCACCTCGGG CCTCACTGAAGAATCTACAGCCTTCCCCGGCAGCCCAGCCTCCACCCAAA CAGGGTTACCTGCCACACTCACAACCGCAGACCTCGGTGAGGAATCAACT ACCTTTCCCAGCAGCTCAGGCTCAACTGGAACAACACTCTCACCTGCCCG CTCCACCACCTCTGGCCTCGTTGGAGAATCCACACCCTCACGCCTCAGTC CAAGCTCAACCGAAACAACAACTTTACCCGGCAGTCCCACAACACCAAGC CTCAGTGAGAAATCAACCACCTTCTACACTAGCCCCAGATCACCAGATGC AACACTCTCACCTGCAACCACAACAAGCTCAGGCGTCAGTGAAGAATCCA GCACATCCCACAGTCAACCAGGCTCAACGCACACAACAGCATTCCCTGAC AGCACCACCACGCCAGGCCTCAGTCGGCATTCTACAACTTCCCACAGCAG CCCAGGCTCAACGGATACAACACTGTTACCTGCCAGCACCACCACCTCAG GCCCCAGTCAGGAATCAACAACTTCCCACAGCAGCCCAGGTTCAACTGAC ACAGCACTGTCCCCTGGCAGTACCACAGCCTTATCCTTTGGTCAAGAATC TACAACCTTCCACAGCAGCCCAGGCTCCACTCACACAACACTCTTCCCTG ACAGCACCACAAGCTCAGGCATCGTTGAAGCATCTACACGCGTCCACAGC AGCACTGGCTCACCACGCACAACACTGTCCCCTGCCAGCTCCACAAGCCC TGGACTTCAGGGAGAATCTACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02602.hp1 HG02630.hp1 others(9): Show HG02109.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03225.hp1 HG03579.hp2 HG03942.hp2 NA18941.hp2	a0004 a0007 a0036 others(2): Show a0004 a0007 a0036 a0129 a0207	a0004c0012 a0004c0013 a0004c0079 others(4): Show a0004c0012 a0004c0013 a0004c0079 a0007c0008 a0036c0014 a0129c0209 a0207c0078	a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 others(4): Show a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 a0007c0008t0001 a0036c0014t0001 a0129c0209t0001 a0207c0078t0001	a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 others(8): Show a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 a0004c0013t0001g0084 a0004c0079t0001g0083 a0007c0008t0001g0010 a0007c0008t0001g0078 a0036c0014t0001g0290 a0036c0014t0001g0291 a0129c0209t0001g0127 a0207c0078t0001g0292	12	342	0.0351	-1422	c.677 others(9): Show c.6776_8197del	p.Thr others(15): Show p.Thr2259_Arg2732del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	6834/16366	6776/16008	2259/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	101003637	CAGCCCGA others(572): Show CAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACAT TGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACT GCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGA ATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCC CTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCAC AGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCT TGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAA CACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACA GCATCCCACAGCAGCCAAGACGCAACGGGAACAATAGTCCTACCTGCCCG CTCCACAACCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTT CAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGC CTCAGTGAGAAATCTACCACTTTCCACAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02602.hp1 HG02630.hp1 others(10): Show HG02109.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03225.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp2 NA19066.hp1	a0004 a0007 a0036 others(3): Show a0004 a0007 a0036 a0055 a0206 a0207	a0004c0012 a0004c0013 a0004c0079 others(5): Show a0004c0012 a0004c0013 a0004c0079 a0007c0008 a0036c0014 a0055c0264 a0206c0077 a0207c0078	a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 others(5): Show a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 a0007c0008t0001 a0036c0014t0001 a0055c0264t0001 a0206c0077t0001 a0207c0078t0001	a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 others(9): Show a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 a0004c0013t0001g0084 a0004c0079t0001g0083 a0007c0008t0001g0010 a0007c0008t0001g0078 a0036c0014t0001g0290 a0036c0014t0001g0291 a0055c0264t0001g0002 a0206c0077t0001g0123 a0207c0078t0001g0292	13	342	0.0380	-579	c.131 others(11): Show c.13122_13700del	p.Leu others(15): Show p.Leu4375_Thr4567del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	13180/16366	13122/16008	4374/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC13_chr3_124900442_124939751	124927858	AAAG AAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02572.hp2 HG02647.hp1 others(2): Show HG02486.hp1 HG02572.hp2 HG02647.hp1 HG03486.hp2 HG03540.hp1	a0006 a0009 a0006 a0009	a0006c0007 a0009c0017 a0006c0007 a0009c0017	a0006c0007t0002 a0009c0017t0002 a0006c0007t0002 a0009c0017t0002	a0006c0007t0002g0016 a0006c0007t0002g0285 a0009c0017t0002g0222 a0006c0007t0002g0016 a0006c0007t0002g0285 a0009c0017t0002g0222	5	452	0.0111	-3	c.185 others(10): Show c.185_187delCTT	p.Ser others(5): Show p.Ser62del	MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	2/12	226/2879	185/1539	62/512		chr3	TogoVar
MUC13_chr3_124900442_124939751	124927969	TCAGCTGA others(37): Show TCAGCTGAGTTGCCTTGGTTGGTGGCTGGAGGAACAAAGATACCA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0227 a0014c0011t0001g0227	1	452	0.0022	-44	c.53- others(52): Show c.53-20_76delTGGTATCTTTGTTCCTCCAGCCACCAACCAAGGCAAC TCAGCTG	p.Ala others(11): Show p.Ala18_Ala25del	MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	2/12	115/2879	53/1539	18/512		chr3	TogoVar
MUC17_chr7_101015081_101063859	101036478	GGAAGAAC others(1406): Show GGAAGAACTCCTTTAACAAGTATAACTGTCAGAACAACACCGGTGGCCAG CTCTGCAATCAGCACCCTTTCAACAACTCCCGTTGACAACAGCACACCTG TGACCACTTCTACTGAAGCCCGTTCATCTCCTACAACTTCTGAAGGTACC AGCATGCCAAACTCAACTCCTAGTGAAGGAACCACTCCATTAACAAGTAT ACCTGTCAGCACCACGCCGGTACTCAGTTCTGAGGCTAGCACCCTTTCAG CAACTCCTATTGACACCAGCACCCCTGTGACCACTTCTACTGAAGCCACT TCGTCTCCTACAACTGCTGAAGGTACCAGCATACCAACCTCGACTCTTAG TGAAGGAATGACTCCATTAACAAGCACACCTGTCAGCCACACGCTGGTGG CCAATTCTGAGGCTAGCACCCTTTCAACAACTCCTGTTGACTCTAACAGT CCTGTGGTCACTTCTACAGCAGTCAGTTCATCTCCTACACCTGCTGAAGG TACCAGCATAGCAACCTCAACGCCTAGTGAAGGAAGCACTGCATTAACAA GTATACCTGTCAGCACCACAACAGTGGCCAGTTCTGAAACCAACACCCTT TCAACAACTCCCGCTGTCACCAGCACACCTGTGACCACTTATGCTCAAGT CAGTTCATCTCCTACAACTGCTGACGGTAGCAGCATGCCAACCTCAACTC CTAGGGAAGGAAGGCCTCCATTAACAAGTATACCTGTCAGCACCACAACA GTGGCCAGTTCTGAAATCAACACCCTTTCAACAACTCTTGCTGACACCAG GACACCTGTGACCACTTATTCTCAAGCCAGTTCATCTCCTACAACTGCTG ATGGTACCAGCATGCCAACCCCAGCTTATAGTGAAGGAAGCACTCCACTA ACAAGTATGCCTCTCAGCACCACGCTGGTGGTCAGTTCTGAGGCTAGCAC TCTTTCCACAACTCCTGTTGACACCAGCACTCCTGCCACCACTTCTACTG AAGGCAGTTCATCTCCTACAACTGCAGGAGGTACCAGCATACAAACCTCA ACTCCTAGTGAACGGACCACTCCATTAGCAGGTATGCCTGTCAGCACTAC GCTTGTGGTCAGTTCTGAGGGTAACACCCTTTCAACAACTCCTGTTGACT CCAAAACTCAGGTGACCAATTCTACTGAAGCCAGTTCATCTGCAACCGCT GAAGGTAGCAGCATGACAATCTCAGCTCCTAGTGAAGGAAGTCCTCTACT AACAAGTATACCTCTCAGCACCACGCCGGTGGCCAGTCCTGAGGCTAGCA CCCTTTCAACAACTCCTGTTGACTCCAACAGTCCTGTGATCACTTCTACT GAAGTCAGTTCATCTCCTATACCTACTGAAGGTACCAGCATGCAAACCTC AACTTATAGTGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0039 a0039	a0039c0045 a0039c0045	a0039c0045t0003 a0039c0045t0003	a0039c0045t0003g0137 a0039c0045t0003g0137	1	366	0.0027	-1413	c.508 others(9): Show c.5085_6497del	p.Ile others(15): Show p.Ile1695_Ser2165del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	5140/14352	5085/13482	1695/4493	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101038780	CCACTCCG others(1586): Show CCACTCCGTTAGCAAGTATGCCTGTCAGCACCACGCCGGTGGTCAGTTCT GAGGCTGGCACCCTTTCCACAACTCCTGTTGACACCAGCACACCTATGAC CACTTCTACTGAAGCCAGTTCATCTCCTACAACTGCTGAAGATATCGTCG TGCCAATCTCAACTGCTAGTGAAGGAAGTACTCTATTAACAAGTATACCT GTCAGCACCACGCCAGTGGCCAGTCCTGAGGCTAGCACCCTTTCAACAAC TCCTGTTGACTCCAACAGTCCTGTGGTCACTTCTACTGAAATCAGTTCAT CTGCTACATCCGCTGAAGGTACCAGCATGCCTACCTCAACTTATAGTGAA GGAAGCACTCCATTAAGAAGTATGCCTGTCAGCACCAAGCCGTTGGCCAG TTCTGAGGCTAGCACTCTTTCAACAACTCCTGTTGACACCAGCATACCTG TCACCACTTCTACTGAAACCAGTTCATCTCCTACAACTGCAAAAGATACC AGCATGCCAATCTCAACTCCTAGTGAAGTAAGTACTTCATTAACAAGTAT ACTTGTCAGCACCATGCCAGTGGCCAGTTCTGAGGCTAGCACCCTTTCAA CAACTCCTGTTGACACCAGGACACTTGTGACCACTTCCACTGGAACCAGT TCATCTCCTACAACTGCTGAAGGTAGCAGCATGCCAACCTCAACTCCTGG TGAAAGAAGCACTCCATTAACAAATATACTTGTCAGCACCACGCTGTTGG CCAATTCTGAGGCTAGCACCCTTTCAACAACTCCTGTTGACACCAGCACA CCTGTCACCACTTCTGCTGAAGCCAGTTCTTCTCCTACAACTGCTGAAGG TACCAGCATGCGAATCTCAACTCCTAGTGATGGAAGTACTCCATTAACAA GTATACTTGTCAGCACCCTGCCAGTGGCCAGTTCTGAGGCTAGCACCGTT TCAACAACTGCTGTTGACACCAGCATACCTGTCACCACTTCTACTGAAGC CAGTTCCTCTCCTACAACTGCTGAAGTTACCAGCATGCCAACCTCAACTC CTAGTGAAACAAGTACTCCATTAACTAGTATGCCTGTCAACCACACGCCA GTGGCCAGTTCTGAGGCTGGCACCCTTTCAACAACTCCTGTTGACACCAG CACACCTGTGACCACTTCTACTAAAGCCAGTTCATCTCCTACAACTGCTG AAGGTATCGTCGTGCCAATCTCAACTGCTAGTGAAGGAAGTACTCTATTA ACAAGTATACCTGTCAGCACCACGCCGGTGGCCAGTTCTGAGGCTAGCAC CCTTTCAACAACTCCTGTTGATACCAGCATACCTGTCACCACTTCTACTG AAGGCAGTTCTTCTCCTACAACTGCTGAAGGTACCAGCATGCCAATCTCA ACTCCTAGTGAAGTAAGTACTCCATTAACAAGTATACTTGTCAGCACCGT GCCAGTGGCCGGTTCTGAGGCTAGCACCCTTTCAACAACTCCTGTTGACA CCAGGACACCTGTCACCACTTCTGCTGAAGCTAGTTCTTCTCCTACAACT GCTGAAGGTACCAGCATGCCAATCTCAACTCCTGGCGAAAGAAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0039 a0039	a0039c0045 a0039c0045	a0039c0045t0003 a0039c0045t0003	a0039c0045t0003g0137 a0039c0045t0003g0137	1	366	0.0027	-1593	c.736 others(9): Show c.7365_8957del	p.Thr others(15): Show p.Thr2456_Arg2986del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	7420/14352	7365/13482	2455/4493		chr7	TogoVar
MUC17_chr7_101015081_101063859	101039275	ATACCAGC others(1586): Show ATACCAGCATGCCAATCTCAACTCCTAGTGAAGTAAGTACTTCATTAACA AGTATACTTGTCAGCACCATGCCAGTGGCCAGTTCTGAGGCTAGCACCCT TTCAACAACTCCTGTTGACACCAGGACACTTGTGACCACTTCCACTGGAA CCAGTTCATCTCCTACAACTGCTGAAGGTAGCAGCATGCCAACCTCAACT CCTGGTGAAAGAAGCACTCCATTAACAAATATACTTGTCAGCACCACGCT GTTGGCCAATTCTGAGGCTAGCACCCTTTCAACAACTCCTGTTGACACCA GCACACCTGTCACCACTTCTGCTGAAGCCAGTTCTTCTCCTACAACTGCT GAAGGTACCAGCATGCGAATCTCAACTCCTAGTGATGGAAGTACTCCATT AACAAGTATACTTGTCAGCACCCTGCCAGTGGCCAGTTCTGAGGCTAGCA CCGTTTCAACAACTGCTGTTGACACCAGCATACCTGTCACCACTTCTACT GAAGCCAGTTCCTCTCCTACAACTGCTGAAGTTACCAGCATGCCAACCTC AACTCCTAGTGAAACAAGTACTCCATTAACTAGTATGCCTGTCAACCACA CGCCAGTGGCCAGTTCTGAGGCTGGCACCCTTTCAACAACTCCTGTTGAC ACCAGCACACCTGTGACCACTTCTACTAAAGCCAGTTCATCTCCTACAAC TGCTGAAGGTATCGTCGTGCCAATCTCAACTGCTAGTGAAGGAAGTACTC TATTAACAAGTATACCTGTCAGCACCACGCCGGTGGCCAGTTCTGAGGCT AGCACCCTTTCAACAACTCCTGTTGATACCAGCATACCTGTCACCACTTC TACTGAAGGCAGTTCTTCTCCTACAACTGCTGAAGGTACCAGCATGCCAA TCTCAACTCCTAGTGAAGTAAGTACTCCATTAACAAGTATACTTGTCAGC ACCGTGCCAGTGGCCGGTTCTGAGGCTAGCACCCTTTCAACAACTCCTGT TGACACCAGGACACCTGTCACCACTTCTGCTGAAGCTAGTTCTTCTCCTA CAACTGCTGAAGGTACCAGCATGCCAATCTCAACTCCTGGCGAAAGAAGA ACTCCATTAACAAGTATGTCTGTCAGCACCATGCCGGTGGCCAGTTCTGA GGCTAGCACCCTTTCAAGAACTCCTGCTGACACCAGCACACCTGTGACCA CTTCTACTGAAGCCAGTTCCTCTCCTACAACTGCTGAAGGTACCGGCATA CCAATCTCAACTCCTAGTGAAGGAAGTACTCCATTAACAAGTATACCTGT CAGCACCACGCCAGTGGCCATTCCTGAGGCTAGCACCCTTTCAACAACTC CTGTTGACTCCAACAGTCCTGTGGTCACTTCTACTGAAGTCAGTTCATCT CCTACACCTGCTGAAGGTACCAGCATGCCAATCTCAACTTATAGTGAAGG AAGCACTCCATTAACAGGTGTGCCTGTCAGCACCACACCGGTGACCAGTT CTGCAATCAGCACCCTTTCAACAACTCCTGTTGACACCAGCACACCTGTG ACCACTTCTACTGAAGCCCATTCATCTCCTACAACTTCTGAAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01496.hp1 HG01943.hp1 HG01981.hp1 HG01496.hp1 HG01943.hp1 HG01981.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0015 a0019c0020t0001g0015	3	366	0.0082	-1593	c.787 others(9): Show c.7874_9466del	p.Ile others(15): Show p.Ile2625_Pro3155del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	7929/14352	7874/13482	2625/4493	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC20_chr3_195715978_195738551	195721040	TTTC TTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01978.hp2 HG02109.hp1 HG02280.hp1 others(4): Show HG01978.hp2 HG02109.hp1 HG02280.hp1 HG02886.hp2 HG02965.hp2 HG03453.hp2 HG03688.hp2	a0012 a0013 a0022 others(2): Show a0012 a0013 a0022 a0023 a0024	a0012c0015 a0013c0038 a0013c0039 others(3): Show a0012c0015 a0013c0038 a0013c0039 a0022c0040 a0023c0037 a0024c0036	a0012c0015t0001 a0013c0038t0001 a0013c0039t0001 others(3): Show a0012c0015t0001 a0013c0038t0001 a0013c0039t0001 a0022c0040t0001 a0023c0037t0001 a0024c0036t0001	a0012c0015t0001g0013 a0012c0015t0001g0034 a0013c0038t0001g0035 others(4): Show a0012c0015t0001g0013 a0012c0015t0001g0034 a0013c0038t0001g0035 a0013c0039t0001g0013 a0022c0040t0001g0036 a0023c0037t0001g0044 a0024c0036t0001g0080	7	185	0.0378	-3	c.41_ others(8): Show c.41_43delTCT	p.Phe others(5): Show p.Phe14del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	1/4	71/2493	41/2130	14/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725147	AGCCCCCA others(335): Show AGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTC TTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCA GCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCA GAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACG GGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCC CGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTC ATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18944.hp1 NA18959.hp2 NA18965.hp1 others(5): Show NA18944.hp1 NA18959.hp2 NA18965.hp1 NA18980.hp2 NA18981.hp1 NA18992.hp1 NA18993.hp1 NA19086.hp2	a0005 a0044 a0005 a0044	a0005c0007 a0044c0048 a0005c0007 a0044c0048	a0005c0007t0002 a0044c0048t0002 a0005c0007t0002 a0044c0048t0002	a0005c0007t0002g0003 a0005c0007t0002g0098 a0044c0048t0002g0003 a0005c0007t0002g0003 a0005c0007t0002g0098 a0044c0048t0002g0003	8	185	0.0432	-342	c.719 others(8): Show c.719_1060del	p.Pro others(13): Show p.Pro240_Gly353del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	749/2493	719/2130	240/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725147	AGCCCCCA others(392): Show AGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTC TTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCA GCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCA GAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACG GGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCC CGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTC ATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCA TCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 NA18966.hp2 NA18969.hp2 HG01074.hp2 NA18966.hp2 NA18969.hp2	a0010 a0010	a0010c0016 a0010c0050 a0010c0016 a0010c0050	a0010c0016t0002 a0010c0050t0002 a0010c0016t0002 a0010c0050t0002	a0010c0016t0002g0003 a0010c0050t0002g0009 a0010c0016t0002g0003 a0010c0050t0002g0009	3	185	0.0162	-399	c.662 others(8): Show c.662_1060del	p.Pro others(13): Show p.Pro221_Gly353del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	692/2493	662/2130	221/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725147	AGCCCCCA others(563): Show AGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTC TTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCA GCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCA GAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACG GGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCC CGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTC ATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCA TCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACG GCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCT TCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAG CGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAG AGAGCAGCGCCTCTTCCGACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp2 HG02965.hp2	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0080 a0024c0036t0001g0080	1	185	0.0054	-570	c.624 others(8): Show c.624_1193del	p.Ser others(13): Show p.Ser209_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	654/2493	624/2130	208/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725151	CCCATCCA others(506): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCA GTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC CCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCG ACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCC TCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0001 a0023c0037t0001	a0023c0037t0001g0044 a0023c0037t0001g0044	1	185	0.0054	-513	c.681 others(8): Show c.681_1193del	p.Ser others(13): Show p.Ser228_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	711/2493	681/2130	227/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725208	CCCATCCA others(449): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCA GTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC CCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCG ACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0038 a0038	a0038c0056 a0038c0056	a0038c0056t0001 a0038c0056t0001	a0038c0056t0001g0065 a0038c0056t0001g0065	1	185	0.0054	-456	c.738 others(8): Show c.738_1193del	p.Ser others(13): Show p.Ser247_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	768/2493	738/2130	246/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725265	CCCATCCA others(392): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCA GTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0037 a0037	a0037c0057 a0037c0057	a0037c0057t0002 a0037c0057t0002	a0037c0057t0002g0109 a0037c0057t0002g0109	1	185	0.0054	-399	c.795 others(8): Show c.795_1193del	p.Ser others(13): Show p.Ser266_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	825/2493	795/2130	265/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725322	CCCATCCA others(335): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01123.hp1 HG01975.hp2 HG02293.hp2 others(3): Show HG01123.hp1 HG01975.hp2 HG02293.hp2 HG03098.hp2 HG03490.hp1 NA19043.hp1	a0009 a0020 a0009 a0020	a0009c0010 a0020c0017 a0009c0010 a0020c0017	a0009c0010t0002 a0020c0017t0002 a0009c0010t0002 a0020c0017t0002	a0009c0010t0002g0009 a0009c0010t0002g0020 a0009c0010t0002g0099 others(2): Show a0009c0010t0002g0009 a0009c0010t0002g0020 a0009c0010t0002g0099 a0020c0017t0002g0104 a0020c0017t0002g0108	6	185	0.0324	-342	c.852 others(8): Show c.852_1193del	p.Ser others(13): Show p.Ser285_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	882/2493	852/2130	284/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725379	CCCATCCA others(278): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp1 HG03831.hp1	a0043 a0043	a0043c0047 a0043c0047	a0043c0047t0002 a0043c0047t0002	a0043c0047t0002g0020 a0043c0047t0002g0020	1	185	0.0054	-285	c.909 others(8): Show c.909_1193del	p.Ser others(13): Show p.Ser304_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	939/2493	909/2130	303/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725550	CCCATCCA others(107): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18991.hp2 NA18991.hp2	a0052 a0052	a0052c0031 a0052c0031	a0052c0031t0002 a0052c0031t0002	a0052c0031t0002g0029 a0052c0031t0002g0029	1	185	0.0054	-114	c.106 others(9): Show c.1061_1174del	p.Leu others(13): Show p.Leu354_Gly391del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1091/2493	1061/2130	354/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725607	CCCATCCA others(50): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19060.hp1 NA19060.hp1	a0000 a0000	a0000c0033 a0000c0033	a0000c0033t0003 a0000c0033t0003	a0000c0033t0003g0001 a0000c0033t0003g0001	1	185	0.0054	-57	c.106 others(66): Show c.1061_1117delTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCC	p.Leu others(13): Show p.Leu354_Gly372del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1091/2493	1061/2130	354/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725664	TCCATCCA others(50): Show TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp1 HG01993.hp1	a0000 a0000	a0000c0030 a0000c0030	a0000c0030t0003 a0000c0030t0003	a0000c0030t0003g0026 a0000c0030t0003g0026	1	185	0.0054	-57	c.113 others(66): Show c.1137_1193delGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCC	p.Ser others(13): Show p.Ser380_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1167/2493	1137/2130	379/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195726176	GTTAGCA GTTAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01071.hp2 HG02109.hp2 others(1): Show HG00741.hp1 HG01071.hp2 HG02109.hp2 HG02922.hp1	a0027 a0036 a0050 others(1): Show a0027 a0036 a0050 a0051	a0027c0055 a0036c0054 a0050c0043 others(1): Show a0027c0055 a0036c0054 a0050c0043 a0051c0042	a0027c0055t0006 a0036c0054t0006 a0050c0043t0002 others(1): Show a0027c0055t0006 a0036c0054t0006 a0050c0043t0002 a0051c0042t0002	a0027c0055t0006g0045 a0036c0054t0006g0086 a0050c0043t0002g0014 others(1): Show a0027c0055t0006g0045 a0036c0054t0006g0086 a0050c0043t0002g0014 a0051c0042t0002g0040	4	185	0.0216	-6	c.157 others(15): Show c.1574_1579delTTAGCA	p.Val others(19): Show p.Val525_Arg527delinsGly	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1604/2493	1574/2130	525/709		chr3	TogoVar
MUC21_chr6_30978718_30994903	30987342	AGCCACCA others(83): Show AGCCACCACCTCTGAGTCCAGCACGACCTCCAGTGGGGCCAGCACAGCCA CCAACTCTGAGTCCAGCACAGTGTCCAGTGGGGCCAGCACT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG02148.hp2 HG02273.hp2 others(2): Show HG01168.hp2 HG02148.hp2 HG02273.hp2 NA18939.hp2 NA20129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0007 a0007c0012t0007	a0007c0012t0007g0007 a0007c0012t0007g0007	5	448	0.0112	-90	c.117 others(99): Show c.1175_1264delCCTCTGAGTCCAGCACGACCTCCAGTGGGGCCAGCA CAGCCACCAACTCTGAGTCCAGCACAGTGTCCAGTGGGGCCAGCACTGCC ACCA	p.Thr others(13): Show p.Thr392_Thr421del	MUC21	ENSG00000204544.5	transcript	ENST00000376296.3	protein_coding	2/3	1416/3651	1175/1701	392/566	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31025968	CACCACAG others(23): Show CACCACAGGCTCTGAGACTGCCACAGTCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0117 a0117	a0117c0119 a0117c0119	a0117c0119t0010 a0117c0119t0010	a0117c0119t0010g0157 a0117c0119t0010g0157	1	461	0.0022	-30	c.555 others(37): Show c.555_584delTGCCACAGTCTCTACCACAGGCTCTGAGAC	p.Ala others(13): Show p.Ala186_Thr195del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	788/6019	555/5322	185/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31026229	CACCACCA others(1067): Show CACCACCACAGCCTCTACCACAGGCTCTGAGACCACTACAATCCTGATTA AAGCCTCTGAGACCACCACAGCCTCTACAGCAGGTTCTGAGACCACCACC CCCTCCCCCACAGGCTCTCAGACCACCATAGTCTCTATTTCAGGTTCTGA GATCACCACCACCTCTACGGCAGGATCCGAGAACACCACAGTCTCTAGTG CAGGCTCTGGGACCACCACAGCTTCTATGGCAGGCTCTGAGACCACCGTC TCCACTGCAGGCTCTGAGACCACTACAGTCTCTATCACAGGCACTGAGAC CACCATGGTCTCTGCCATGGGCTCAGAGACCACCACAAACTCTACTACAA GCTCTGAGACCACCGTCACCTCTACTGCAGGCTCTGAGACCACCACAGTC TCCACCGTGGGCTCTGAGACCACCACAGCCTATACTGCAGATTCTGAGAC CACTGCAGCCTCTACCACAGGCTCTGAGATGACCACAGTCTTCACTGCAG GCTCGGAAACCATCACACCCTCTACTGCAGGCTCAGAGACCACCACAGTC TCTACTGCAGGCTCTGAGACCACTACAGTCTCCACCACAGGCTCTGAGAC CACAACAGCCTCTACTGCACATTCTGAGACGACTGCAGCCTCCACCATGG GCTCTGAGACCACCAAAGTCTCAACTGCAGGCTCTGAGACCACAGTCTCC ACTGCAGGCTCTGAGACCACTGCAGCCTCTACTGAAGATTCTGAAACCAA CACAGCATTTACTGAAGATTCTAAGACTACCACAGCCTCTACTACAGGGT TTGAGACAACCGCAGCCTCTACTACAGGCTCTGAGCCTACCATGGCATCC ACCATGGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCAC CAAGGTCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCT CTGAGACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCT ACCACAGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAG CACAGATTCTACCACAGGCTCTGAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(20): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02683.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18965.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA19063.hp2 NA20300.hp2	a0007 a0058 a0083 others(3): Show a0007 a0058 a0083 a0101 a0102 a0104	a0007c0004 a0007c0053 a0058c0090 others(5): Show a0007c0004 a0007c0053 a0058c0090 a0058c0091 a0083c0107 a0101c0087 a0102c0089 a0104c0086	a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 others(6): Show a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 a0058c0090t0001 a0058c0091t0001 a0083c0107t0001 a0101c0087t0001 a0102c0089t0001 a0104c0086t0001	a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 others(14): Show a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 a0007c0004t0001g0047 a0007c0004t0001g0095 a0007c0004t0001g0096 a0007c0004t0001g0100 a0007c0004t0001g0101 a0007c0004t0001g0123 a0007c0004t0002g0097 a0007c0053t0001g0045 a0058c0090t0001g0099 a0058c0091t0001g0021 a0083c0107t0001g0094 a0101c0087t0001g0098 a0102c0089t0001g0102 a0104c0086t0001g0027	23	461	0.0499	-1074	c.816 others(8): Show c.816_1889del	p.Thr others(13): Show p.Thr273_Thr630del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1049/6019	816/5322	272/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31026241	CTCTACCA others(1037): Show CTCTACCACAGGCTCTGAGACCACTACAATCCTGATTAAAGCCTCTGAGA CCACCACAGCCTCTACAGCAGGTTCTGAGACCACCACCCCCTCCCCCACA GGCTCTCAGACCACCATAGTCTCTATTTCAGGTTCTGAGATCACCACCAC CTCTACGGCAGGATCCGAGAACACCACAGTCTCTAGTGCAGGCTCTGGGA CCACCACAGCTTCTATGGCAGGCTCTGAGACCACCGTCTCCACTGCAGGC TCTGAGACCACTACAGTCTCTATCACAGGCACTGAGACCACCATGGTCTC TGCCATGGGCTCAGAGACCACCACAAACTCTACTACAAGCTCTGAGACCA CCGTCACCTCTACTGCAGGCTCTGAGACCACCACAGTCTCCACCGTGGGC TCTGAGACCACCACAGCCTATACTGCAGATTCTGAGACCACTGCAGCCTC TACCACAGGCTCTGAGATGACCACAGTCTTCACTGCAGGCTCGGAAACCA TCACACCCTCTACTGCAGGCTCAGAGACCACCACAGTCTCTACTGCAGGC TCTGAGACCACTACAGTCTCCACCACAGGCTCTGAGACCACAACAGCCTC TACTGCACATTCTGAGACGACTGCAGCCTCCACCATGGGCTCTGAGACCA CCAAAGTCTCAACTGCAGGCTCTGAGACCACAGTCTCCACTGCAGGCTCT GAGACCACTGCAGCCTCTACTGAAGATTCTGAAACCAACACAGCATTTAC TGAAGATTCTAAGACTACCACAGCCTCTACTACAGGGTTTGAGACAACCG CAGCCTCTACTACAGGCTCTGAGCCTACCATGGCATCCACCATGGGCTCT GAGACCACTATGGCCTCTACCATAGGCCCTGAGACCACCAAGGTCTCCAC TGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAGACAATCA GAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCTACCACAGGCTCT GAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAGCACAGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0050 a0050	a0050c0048 a0050c0048	a0050c0048t0001 a0050c0048t0001	a0050c0048t0001g0050 a0050c0048t0001g0050	2	461	0.0043	-1044	c.834 others(8): Show c.834_1877del	p.Thr others(13): Show p.Thr279_Thr626del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1067/6019	834/5322	278/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31026249	CAGGCTCT others(1067): Show CAGGCTCTGAGACCACTACAATCCTGATTAAAGCCTCTGAGACCACCACA GCCTCTACAGCAGGTTCTGAGACCACCACCCCCTCCCCCACAGGCTCTCA GACCACCATAGTCTCTATTTCAGGTTCTGAGATCACCACCACCTCTACGG CAGGATCCGAGAACACCACAGTCTCTAGTGCAGGCTCTGGGACCACCACA GCTTCTATGGCAGGCTCTGAGACCACCGTCTCCACTGCAGGCTCTGAGAC CACTACAGTCTCTATCACAGGCACTGAGACCACCATGGTCTCTGCCATGG GCTCAGAGACCACCACAAACTCTACTACAAGCTCTGAGACCACCGTCACC TCTACTGCAGGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGAC CACCACAGCCTATACTGCAGATTCTGAGACCACTGCAGCCTCTACCACAG GCTCTGAGATGACCACAGTCTTCACTGCAGGCTCGGAAACCATCACACCC TCTACTGCAGGCTCAGAGACCACCACAGTCTCTACTGCAGGCTCTGAGAC CACTACAGTCTCCACCACAGGCTCTGAGACCACAACAGCCTCTACTGCAC ATTCTGAGACGACTGCAGCCTCCACCATGGGCTCTGAGACCACCAAAGTC TCAACTGCAGGCTCTGAGACCACAGTCTCCACTGCAGGCTCTGAGACCAC TGCAGCCTCTACTGAAGATTCTGAAACCAACACAGCATTTACTGAAGATT CTAAGACTACCACAGCCTCTACTACAGGGTTTGAGACAACCGCAGCCTCT ACTACAGGCTCTGAGCCTACCATGGCATCCACCATGGGCTCTGAGACCAC TATGGCCTCTACCATAGGCCCTGAGACCACCAAGGTCTCCACTGCAAGCT CTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAGACAATCAGAGCCTCT ACCGTAGGCTCTGAGACCACCACAGTCTCTACCACAGGCTCTGAGACCAC CACAGCCTCCATCATGGGCTCTGAGACCAGCACAGATTCTACCACAGGCT CTGAGACCACCACAGCCTCTACTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02027.hp2 HG02135.hp2 HG02027.hp2 HG02135.hp2	a0051 a0051	a0051c0054 a0051c0054	a0051c0054t0001 a0051c0054t0001	a0051c0054t0001g0051 a0051c0054t0001g0051	2	461	0.0043	-1074	c.834 others(8): Show c.834_1907del	p.Thr others(13): Show p.Thr279_Thr636del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1067/6019	834/5322	278/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31026777	TCTCTACT others(530): Show TCTCTACTGCAGGCTCTGAGACCACTACAGTCTCCACCACAGGCTCTGAG ACCACAACAGCCTCTACTGCACATTCTGAGACGACTGCAGCCTCCACCAT GGGCTCTGAGACCACCAAAGTCTCAACTGCAGGCTCTGAGACCACAGTCT CCACTGCAGGCTCTGAGACCACTGCAGCCTCTACTGAAGATTCTGAAACC AACACAGCATTTACTGAAGATTCTAAGACTACCACAGCCTCTACTACAGG GTTTGAGACAACCGCAGCCTCTACTACAGGCTCTGAGCCTACCATGGCAT CCACCATGGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACC ACCAAGGTCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGG CTCTGAGACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCT CTACCACAGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACC AGCACAGATTCTACCACAGGCTCTGAGACCACCACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04115.hp1 HG04115.hp1	a0094 a0094	a0094c0115 a0094c0115	a0094c0115t0001 a0094c0115t0001	a0094c0115t0001g0206 a0094c0115t0001g0206	1	461	0.0022	-537	c.135 others(9): Show c.1355_1891del	p.Ala others(13): Show p.Ala452_Thr630del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1588/6019	1355/5322	452/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31027084	GGGCTCTG others(1853): Show GGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCACCAAGG TCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAG ACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCTACCAC AGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAGCACAG ATTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAG ACCACCACAGCTTCCACTGAAGGCTCTGAGGCCACTACAGTCTCCACCAC AGGCTCTGAGACCACTACAGTTTCTATCACAGACTCAGAGACCACCACCA CCTGTACTGAAGGCTCTGAGATGACTGCAGTCTCCACCACAGTCTTTGAG ACCACTACAGCCTCTACTGAAGGCTCTGAGATCACAATAGCCTCTACTTC AGACTCTGAGACCACCACAGCTTCTACTGAAGGTTCTGAGACCACTACAG TCACTACCGCAGGCTCTGAGACCAAAACAGCCTATACTACAGGCTCTGAG ACCACCACAGCCTCTAATACAGGCTTGGAGACCACCACAGTCTTTACCAT AGGCTCTGACACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTGCAG TCTCTGCCACAGGCTCTGAGATGACCACAGTCTCTACTGAAGGCTCTGAG AACACTACAGTCTCCACCACAGGCTCTGAGACCACTACAGTTTCCACCAC AGGCTTGGAGACCACCACCACTTCCACTGAAGGCTCTGAGATGACTACAG TCTCCACCACAGGTGCTGAGACCACCACAGACTCTACTGAAGGCTCTGGG ACCACTGCAGCCTCCACTGCAGGCTCTGAGACCACCACAGTCTCTACTGC AGATTCTGAGAACACCACAGCATCTACTGCAGATTCTGAGACCACCTCAG CCTCTACTACAGGCTCTGAGACCACCACAGCCTCTACTACAAGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTACAGTCTCCACCAC AGACTCTGAGACCACCATGGTCTCTACCACAGGCTCTGAGAGGACCATCA CCTCTACTGAAGGCTCTGAGACCACTACAGTATCTGCCACAGGCTCTGAG ACCACAGTCTCTACTGAAGGCTCTGGGACCACTACAGTCTCCATCACAGG CTCTGAGACCACTAAAGTTTCTACCACAGGTTCAGAGACCACCACCACTT CTACTGAAGGCTCTGAGATTACTACAGCCTCCATCACAGGCTCTGAGACC ACCACAGCCTCTACTGAAGGCTCCGAGACCACCACAGCCTCTACTGAAGG CTCCGAGACCACCTCAGCCTCTACTACAGGCTCTGAGACCACCACAGCCT CTACTACAAGCTCTGAGACCACCATGGCATCCATCATGGGCTCTGAGACC ACTATGGCCTCTACCATAGGCTCTGAGACCACCAAGGTCTCCACTGCAAG CTCTAAAATGACCACAGTCTTCACTGAAAACTCTGAGACCACCATAGCCT CTACCACAGCCTCTGAGACCACCACAGTCTCCACTGCAGGCTCTGAGACC ATCCCAGCCTCTACAGCAGGCTCTGAGACCACCACCACCACCTCTACTGA AGGCTCTGAGACCACTACAGCCTCTACTGAAGGCTCTGAGACCACCACAG CCTCTACTGAAAGCTCTGAGACCACTACAGCCACTACCATAGGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACTACCACCACCTCTACTGA AGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAGATCACTACAG TTTCTACCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18945.hp1 NA18955.hp1 others(13): Show NA18942.hp1 NA18945.hp1 NA18955.hp1 NA18963.hp2 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19062.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0004 a0008c0003t0004	a0008c0003t0004g0005 a0008c0003t0004g0145 a0008c0003t0004g0146 others(3): Show a0008c0003t0004g0005 a0008c0003t0004g0145 a0008c0003t0004g0146 a0008c0003t0004g0147 a0008c0003t0004g0149 a0008c0003t0004g0151	16	461	0.0347	-1860	c.166 others(9): Show c.1668_3527del	p.Met others(14): Show p.Met557_Thr1176del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1901/6019	1668/5322	556/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31027084	GGGCTCTG others(1883): Show GGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCACCAAGG TCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAG ACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCTACCAC AGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAGCACAG ATTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAG ACCACCACAGCTTCCACTGAAGGCTCTGAGGCCACTACAGTCTCCACCAC AGGCTCTGAGACCACTACAGTTTCTATCACAGACTCAGAGACCACCACCA CCTGTACTGAAGGCTCTGAGATGACTGCAGTCTCCACCACAGTCTTTGAG ACCACTACAGCCTCTACTGAAGGCTCTGAGATCACAATAGCCTCTACTTC AGACTCTGAGACCACCACAGCTTCTACTGAAGGTTCTGAGACCACTACAG TCACTACCGCAGGCTCTGAGACCAAAACAGCCTATACTACAGGCTCTGAG ACCACCACAGCCTCTAATACAGGCTTGGAGACCACCACAGTCTTTACCAT AGGCTCTGACACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTGCAG TCTCTGCCACAGGCTCTGAGATGACCACAGTCTCTACTGAAGGCTCTGAG AACACTACAGTCTCCACCACAGGCTCTGAGACCACTACAGTTTCCACCAC AGGCTTGGAGACCACCACCACTTCCACTGAAGGCTCTGAGATGACTACAG TCTCCACCACAGGTGCTGAGACCACCACAGACTCTACTGAAGGCTCTGGG ACCACTGCAGCCTCCACTGCAGGCTCTGAGACCACCACAGTCTCTACTGC AGATTCTGAGAACACCACAGCATCTACTGCAGATTCTGAGACCACCTCAG CCTCTACTACAGGCTCTGAGACCACCACAGCCTCTACTACAAGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTACAGTCTCCACCAC AGACTCTGAGACCACCATGGTCTCTACCACAGGCTCTGAGAGGACCATCA CCTCTACTGAAGGCTCTGAGACCACTACAGTATCTGCCACAGGCTCTGAG ACCACAGTCTCTACTGAAGGCTCTGGGACCACTACAGTCTCCATCACAGG CTCTGAGACCACTAAAGTTTCTACCACAGGTTCAGAGACCACCACCACTT CTACTGAAGGCTCTGAGATTACTACAGCCTCCATCACAGGCTCTGAGACC ACCACAGCCTCTACTGAAGGCTCCGAGACCACCACAGCCTCTACTGAAGG CTCCGAGACCACCTCAGCCTCTACTACAGGCTCTGAGACCACCACAGCCT CTACTACAAGCTCTGAGACCACCATGGCATCCATCATGGGCTCTGAGACC ACTATGGCCTCTACCATAGGCTCTGAGACCACCAAGGTCTCCACTGCAAG CTCTAAAATGACCACAGTCTTCACTGAAAACTCTGAGACCACCATAGCCT CTACCACAGCCTCTGAGACCACCACAGTCTCCACTGCAGGCTCTGAGACC ATCCCAGCCTCTACAGCAGGCTCTGAGACCACCACCACCACCTCTACTGA AGGCTCTGAGACCACTACAGCCTCTACTGAAGGCTCTGAGACCACCACAG CCTCTACTGAAAGCTCTGAGACCACTACAGCCACTACCATAGGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACTACCACCACCTCTACTGA AGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAGATCACTACAG TTTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02559.hp1 HG02809.hp1 others(1): Show HG01109.hp2 HG02559.hp1 HG02809.hp1 HG03225.hp2	a0034 a0107 a0034 a0107	a0034c0050 a0034c0129 a0107c0120 a0034c0050 a0034c0129 a0107c0120	a0034c0050t0001 a0034c0050t0003 a0034c0129t0001 others(1): Show a0034c0050t0001 a0034c0050t0003 a0034c0129t0001 a0107c0120t0003	a0034c0050t0001g0141 a0034c0050t0003g0129 a0034c0129t0001g0139 others(1): Show a0034c0050t0001g0141 a0034c0050t0003g0129 a0034c0129t0001g0139 a0107c0120t0003g0107	4	461	0.0087	-1890	c.166 others(9): Show c.1668_3557del	p.Met others(14): Show p.Met557_Thr1186del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1901/6019	1668/5322	556/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31027222	AGTCTCTA others(11): Show AGTCTCTACCACAGGCTCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02738.hp2 HG02738.hp2	a0000 a0000	a0000c0116 a0000c0116	a0000c0116t0001 a0000c0116t0001	a0000c0116t0001g0076 a0000c0116t0001g0076	1	461	0.0022	-18	c.179 others(27): Show c.1793_1810delTCTCTACCACAGGCTCTG	p.Val others(13): Show p.Val598_Ser603del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	2026/6019	1793/5322	598/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 1873 hits)